SLC25A36
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Also known as FLJ10618PNC2
Summary
SLC25A36 (solute carrier family 25 member 36, HGNC:25554) is a protein-coding gene on chromosome 3q23, encoding Solute carrier family 25 member 36 (Q96CQ1). Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria.
Enables pyrimidine nucleotide transmembrane transporter activity. Involved in mitochondrial genome maintenance; pyrimidine nucleotide transport; and regulation of mitochondrial membrane potential. Located in mitochondrion. Implicated in familial hyperinsulinemic hypoglycemia 8.
Source: NCBI Gene 55186 — RefSeq curated summary.
At a glance
- Gene–disease (curated): hyperinsulinemic hypoglycemia, familial, 8 (Strong, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 43 total — 2 pathogenic
- Phenotypes (HPO): 18
- MANE Select transcript:
NM_001104647
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25554 |
| Approved symbol | SLC25A36 |
| Name | solute carrier family 25 member 36 |
| Location | 3q23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10618, PNC2 |
| Ensembl gene | ENSG00000114120 |
| Ensembl biotype | protein_coding |
| OMIM | 616149 |
| Entrez | 55186 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 13 protein_coding, 5 nonsense_mediated_decay, 5 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000324194, ENST00000393015, ENST00000446041, ENST00000453248, ENST00000502594, ENST00000502756, ENST00000502866, ENST00000507429, ENST00000511757, ENST00000512023, ENST00000512506, ENST00000513887, ENST00000514629, ENST00000515813, ENST00000631654, ENST00000648615, ENST00000874794, ENST00000874795, ENST00000874796, ENST00000874797, ENST00000947563, ENST00000947564, ENST00000947565, ENST00000947566
RefSeq mRNA: 2 — MANE Select: NM_001104647
NM_001104647, NM_018155
CCDS: CCDS3114, CCDS46927
Canonical transcript exons
ENST00000324194 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002051736 | 140976260 | 140980995 |
| ENSE00003566910 | 140973716 | 140974005 |
| ENSE00003587233 | 140970927 | 140970993 |
| ENSE00003610321 | 140956527 | 140956691 |
| ENSE00003628135 | 140959463 | 140959540 |
| ENSE00003644986 | 140963127 | 140963227 |
| ENSE00003890869 | 140941836 | 140942095 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.2880 / max 339.1804, expressed in 1822 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 38860 | 35.6116 | 1822 |
| 38861 | 0.6764 | 426 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| caput epididymis | UBERON:0004358 | 99.20 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.90 | gold quality |
| right uterine tube | UBERON:0001302 | 98.33 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.22 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.60 | gold quality |
| tibia | UBERON:0000979 | 97.53 | gold quality |
| body of pancreas | UBERON:0001150 | 97.31 | gold quality |
| cardia of stomach | UBERON:0001162 | 97.15 | gold quality |
| pylorus | UBERON:0001166 | 97.02 | gold quality |
| nipple | UBERON:0002030 | 96.97 | gold quality |
| visceral pleura | UBERON:0002401 | 96.87 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.75 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.55 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 96.48 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.37 | gold quality |
| left ovary | UBERON:0002119 | 96.32 | gold quality |
| cranial nerve II | UBERON:0000941 | 96.31 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.09 | gold quality |
| right ovary | UBERON:0002118 | 96.08 | gold quality |
| duodenum | UBERON:0002114 | 96.06 | gold quality |
| renal medulla | UBERON:0000362 | 95.98 | gold quality |
| tibial nerve | UBERON:0001323 | 95.92 | gold quality |
| jejunum | UBERON:0002115 | 95.88 | gold quality |
| fundus of stomach | UBERON:0001160 | 95.84 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.70 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.69 | gold quality |
| pleura | UBERON:0000977 | 95.67 | gold quality |
| ovary | UBERON:0000992 | 95.67 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.63 | gold quality |
| body of uterus | UBERON:0009853 | 95.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
219 targeting SLC25A36, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
Literature-anchored findings (GeneRIF, showing 3)
- Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
- The main physiological role of SLC25A33 and SLC25A36 is to import/export pyrimidine nucleotides into and from mitochondria (PMID:25320081)
- Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation. (PMID:36695547)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc25a36a | ENSDARG00000038731 |
| mus_musculus | Slc25a36 | ENSMUSG00000032449 |
| rattus_norvegicus | Slc25a36l1 | ENSRNOG00000054284 |
| rattus_norvegicus | ENSRNOG00000078852 |
Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), SLC25A17 (ENSG00000100372), SLC25A14 (ENSG00000102078), SLC25A15 (ENSG00000102743), SLC25A11 (ENSG00000108528), UCP1 (ENSG00000109424), SLC25A12 (ENSG00000115840), SLC25A2 (ENSG00000120329), SLC25A51 (ENSG00000122696), SLC25A16 (ENSG00000122912), SLC25A35 (ENSG00000125434), SLC25A19 (ENSG00000125454), SLC25A23 (ENSG00000125648), SLC25A47 (ENSG00000140107), SLC25A52 (ENSG00000141437), SLC25A38 (ENSG00000144659), SLC25A26 (ENSG00000144741), SLC25A48 (ENSG00000145832), SLC25A37 (ENSG00000147454), SLC25A25 (ENSG00000148339), SLC25A31 (ENSG00000151475), SLC25A4 (ENSG00000151729), SLC25A27 (ENSG00000153291), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)
Protein
Protein identifiers
Solute carrier family 25 member 36 — Q96CQ1 (reviewed: Q96CQ1)
All UniProt accessions (8): A0A384MEA9, A0A3B3ISS3, D6R8Y3, D6RB26, D6RCF5, Q96CQ1, F6SDC8, J3KQA4
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Selectively transports cytosine, guanosine, inosine and uridine (deoxy)nucleoside mono-, di-, and triphosphates by antiport mechanism. Catalyzes uniport at much lower rate. May import (deoxy)nucleoside triphosphates in exchange for intramitochondrial (deoxy)nucleoside mono- and diphosphates, thus providing precursors necessary for de novo synthesis of mitochondrial DNA and RNA while exporting products of their catabolism. Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration.
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Widely expressed at moderate level. Expressed most strongly in pancreas.
Disease relevance. Hyperinsulinemic hypoglycemia, familial, 8 (HHF8) [MIM:620211] A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF8 is an autosomal recessive form characterized by episodes of symptomatic hypoglycemia provoked by protein feeding, and persistent mild hyperammonemia. Affected children tend to have recurrent generalized seizures. The disease is caused by variants affecting the gene represented in this entry.
Activity regulation. Inhibited by pyridoxal 5’-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, Mersalyl acid, p-hydroxymercuribenzoate).
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96CQ1-1 | 1 | yes |
| Q96CQ1-2 | 2 | |
| Q96CQ1-3 | 3 | |
| Q96CQ1-4 | 4 |
RefSeq proteins (2): NP_001098117, NP_060625 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002067 | MCP | Family |
| IPR018108 | MCP_transmembrane | Repeat |
| IPR023395 | MCP_dom_sf | Homologous_superfamily |
| IPR049562 | SLC25A33/36-like | Family |
Pfam: PF00153
Catalyzed reactions (Rhea), 12 shown:
- UTP(in) + CTP(out) = UTP(out) + CTP(in) (RHEA:73531)
- CTP(out) + UDP(in) = CTP(in) + UDP(out) (RHEA:73583)
- UMP(in) + CTP(out) = UMP(out) + CTP(in) (RHEA:73587)
- dUTP(in) + CTP(out) = dUTP(out) + CTP(in) (RHEA:73591)
- dUMP(in) + CTP(out) = dUMP(out) + CTP(in) (RHEA:73595)
- CDP(in) + CTP(out) = CDP(out) + CTP(in) (RHEA:73599)
- CTP(out) + CMP(in) = CTP(in) + CMP(out) (RHEA:73603)
- dCTP(in) + CTP(out) = dCTP(out) + CTP(in) (RHEA:73607)
- dCDP(in) + CTP(out) = dCDP(out) + CTP(in) (RHEA:73611)
- dCMP(in) + CTP(out) = dCMP(out) + CTP(in) (RHEA:73615)
- GTP(in) + CTP(out) = GTP(out) + CTP(in) (RHEA:73619)
- CTP(out) + GDP(in) = CTP(in) + GDP(out) (RHEA:73623)
UniProt features (15 total): transmembrane region 6, splice variant 4, repeat 3, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96CQ1-F1 | 87.02 | 0.62 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 300 (showing top):
GOBP_NUCLEOTIDE_TRANSPORT, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, MORF_RAF1, GOMF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_NUCLEOTIDE_TRANSMEMBRANE_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOCC_MITOCHONDRIAL_ENVELOPE, LIAO_METASTASIS, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, CAIRO_HEPATOBLASTOMA_UP, GOBP_PYRIMIDINE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORT, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN
GO Biological Process (7): pyrimidine nucleotide import into mitochondrion (GO:1990519), obsolete mitochondrial genome maintenance (GO:0000002), nucleotide transport (GO:0006862), pyrimidine nucleotide transport (GO:0006864), mitochondrion organization (GO:0007005), regulation of mitochondrial membrane potential (GO:0051881), transmembrane transport (GO:0055085)
GO Molecular Function (1): pyrimidine nucleotide transmembrane transporter activity (GO:0015218)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| pyrimidine nucleotide transport | 2 |
| intercellular transport | 1 |
| pyrimidine-containing compound transmembrane transport | 1 |
| nucleotide transmembrane transport | 1 |
| organophosphate ester transport | 1 |
| nucleobase-containing compound transport | 1 |
| nucleotide transport | 1 |
| organelle organization | 1 |
| regulation of membrane potential | 1 |
| transport | 1 |
| cellular process | 1 |
| nucleotide transmembrane transporter activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1086 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC25A36 | SLC25A53 | Q5H9E4 | 567 |
| SLC25A36 | TTC16 | Q8NEE8 | 497 |
| SLC25A36 | MDH1B | Q5I0G3 | 432 |
| SLC25A36 | SLC25A26 | Q70HW3 | 425 |
| SLC25A36 | RIMS2 | Q9UQ26 | 402 |
| SLC25A36 | KCNC4 | Q03721 | 391 |
| SLC25A36 | KLHL8 | Q9P2G9 | 375 |
| SLC25A36 | YME1L1 | Q96TA2 | 373 |
| SLC25A36 | B3GNT9 | Q6UX72 | 367 |
| SLC25A36 | MRPL1 | Q9BYD6 | 365 |
| SLC25A36 | SLC37A1 | P57057 | 353 |
| SLC25A36 | QRICH1 | Q2TAL8 | 346 |
| SLC25A36 | SLC25A52 | Q3SY17 | 344 |
| SLC25A36 | SLC25A51 | Q9H1U9 | 333 |
| SLC25A36 | NMNAT1 | Q9HAN9 | 326 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STAT3 | BANF1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A36 | NME2P1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC25A36 | SLC25A35 | psi-mi:“MI:0915”(physical association) | 0.400 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC25A36 | PTN | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (13): NME2P1 (Affinity Capture-MS), NME2P1 (Affinity Capture-MS), SLC25A36 (Affinity Capture-RNA), SLC25A36 (Affinity Capture-RNA), PTN (Two-hybrid), SLC25A36 (Positive Genetic), NME2P1 (Affinity Capture-MS), SLC25A36 (Affinity Capture-MS), SLC25A36 (Affinity Capture-MS), SLC25A36 (Protein-peptide), SLC25A35 (Affinity Capture-MS), SLC25A36 (Affinity Capture-RNA), SLC25A36 (Affinity Capture-RNA)
ESM2 similar proteins: A0A0G2K5L2, A0JN87, G3XP90, G3YAF3, O04619, O77792, O95847, O97562, P55851, P55916, P56499, P56500, P56501, P70406, Q08DK4, Q1LZB3, Q29RM1, Q2YDD9, Q3SZI5, Q3TZX3, Q3V132, Q4V9P0, Q505J6, Q5IS35, Q5NVC1, Q5R5A8, Q5RD81, Q5RFB7, Q5ZKP7, Q6DG32, Q6P036, Q6PGY3, Q7K566, Q8BZ09, Q922G0, Q96CQ1, Q99JD3, Q9BQT8, Q9BSK2, Q9C5M0
Diamond homologs: A0A0G2K5L2, A2ADF7, A4QNX2, B0G143, F1LX07, F1LZW6, F1RFX9, O13844, O43772, O75746, P16261, P39953, Q02978, Q08DK4, Q0II44, Q12482, Q1DRJ3, Q21153, Q26365, Q3KQZ1, Q3TZX3, Q4V8K4, Q505J6, Q54QN2, Q54RB9, Q552L9, Q58DS3, Q5B717, Q5RBC8, Q5RD81, Q5SWT3, Q5XIF9, Q5ZKP7, Q66L49, Q68F18, Q6ZT89, Q75AH6, Q7PQV7, Q86AV5, Q8BH59
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2443806 | NM_001104647.3(SLC25A36):c.803dup (p.Ser269fs) | Pathogenic |
| 2443807 | NM_001104647.3(SLC25A36):c.284+3A>T | Pathogenic |
SpliceAI
980 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:140942091:GGAGG:G | donor_gain | 1.0000 |
| 3:140942092:GAGGG:G | donor_gain | 1.0000 |
| 3:140942094:GG:G | donor_gain | 1.0000 |
| 3:140942095:GG:G | donor_gain | 1.0000 |
| 3:140956523:TTAG:T | acceptor_loss | 1.0000 |
| 3:140956524:TA:T | acceptor_loss | 1.0000 |
| 3:140956525:A:AG | acceptor_gain | 1.0000 |
| 3:140956525:A:T | acceptor_loss | 1.0000 |
| 3:140956526:G:GG | acceptor_gain | 1.0000 |
| 3:140956526:GA:G | acceptor_gain | 1.0000 |
| 3:140956526:GAT:G | acceptor_gain | 1.0000 |
| 3:140956526:GATGT:G | acceptor_gain | 1.0000 |
| 3:140956692:G:GG | donor_gain | 1.0000 |
| 3:140956695:A:T | donor_gain | 1.0000 |
| 3:140956698:GCATA:G | donor_gain | 1.0000 |
| 3:140956711:G:GT | donor_gain | 1.0000 |
| 3:140956712:A:T | donor_gain | 1.0000 |
| 3:140970990:CAAGG:C | donor_loss | 1.0000 |
| 3:140970991:AAG:A | donor_loss | 1.0000 |
| 3:140970994:GTAT:G | donor_loss | 1.0000 |
| 3:140970995:T:A | donor_loss | 1.0000 |
| 3:140973710:TTTCA:T | acceptor_loss | 1.0000 |
| 3:140973711:TTCA:T | acceptor_loss | 1.0000 |
| 3:140973712:TCA:T | acceptor_loss | 1.0000 |
| 3:140973713:CAG:C | acceptor_loss | 1.0000 |
| 3:140973714:A:AG | acceptor_gain | 1.0000 |
| 3:140973714:AG:A | acceptor_gain | 1.0000 |
| 3:140973715:G:GA | acceptor_gain | 1.0000 |
| 3:140973715:GG:G | acceptor_gain | 1.0000 |
| 3:140974002:CATGG:C | donor_loss | 1.0000 |
AlphaMissense
1985 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:140976404:C:A | A296D | 1.000 |
| 3:140942089:C:A | A12D | 0.999 |
| 3:140942092:G:A | G13E | 0.999 |
| 3:140956532:G:A | G16D | 0.999 |
| 3:140956543:G:A | G20R | 0.999 |
| 3:140956543:G:C | G20R | 0.999 |
| 3:140956544:G:A | G20E | 0.999 |
| 3:140956567:G:A | E28K | 0.999 |
| 3:140956577:A:T | K31I | 0.999 |
| 3:140956578:A:C | K31N | 0.999 |
| 3:140956578:A:T | K31N | 0.999 |
| 3:140956586:T:C | L34P | 0.999 |
| 3:140956590:G:C | Q35H | 0.999 |
| 3:140956590:G:T | Q35H | 0.999 |
| 3:140959503:G:A | G83R | 0.999 |
| 3:140959503:G:C | G83R | 0.999 |
| 3:140959504:G:A | G83E | 0.999 |
| 3:140959524:G:A | G90R | 0.999 |
| 3:140959524:G:C | G90R | 0.999 |
| 3:140959525:G:A | G90E | 0.999 |
| 3:140959531:C:A | A92D | 0.999 |
| 3:140959534:C:A | P93H | 0.999 |
| 3:140963129:C:A | A96E | 0.999 |
| 3:140963132:T:A | I97K | 0.999 |
| 3:140963137:T:C | F99L | 0.999 |
| 3:140963138:T:C | F99S | 0.999 |
| 3:140963138:T:G | F99C | 0.999 |
| 3:140963139:T:A | F99L | 0.999 |
| 3:140963139:T:G | F99L | 0.999 |
| 3:140963160:G:C | K106N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000019563 (3:140949917 C>G), RS1000065758 (3:140949647 A>G), RS1000126689 (3:140955536 A>C), RS1000216906 (3:140974810 G>A), RS1000232211 (3:140955247 A>G), RS1000278350 (3:140946250 T>C), RS1000337408 (3:140961450 T>C), RS1000378870 (3:140952085 C>G,T), RS1000505642 (3:140940924 T>C), RS1000608620 (3:140945002 C>A,T), RS1000706905 (3:140964245 G>A,T), RS1000806601 (3:140971236 A>C), RS1000954157 (3:140951131 T>C), RS1000986793 (3:140963015 T>C), RS1001595079 (3:140952730 A>G)
Disease associations
OMIM: gene MIM:616149 | disease phenotypes: MIM:620211
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hyperinsulinemic hypoglycemia, familial, 8 | Strong | Autosomal recessive |
Mondo (1): hyperinsulinemic hypoglycemia, familial, 8 (MONDO:0859362)
Orphanet (0):
HPO phenotypes
18 total (18 of 18 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000821 | Hypothyroidism |
| HP:0000842 | Hyperinsulinemia |
| HP:0001256 | Mild intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001510 | Growth delay |
| HP:0001631 | Atrial septal defect |
| HP:0001943 | Hypoglycemia |
| HP:0001987 | Hyperammonemia |
| HP:0002173 | Hypoglycemic seizures |
| HP:0002474 | Expressive language delay |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration |
| HP:0003124 | Hypercholesterolemia |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0012450 | Chronic constipation |
| HP:0030796 | Increased C-peptide level |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000269_2 | Multiple sclerosis | 3.000000e-06 |
| GCST001572_6 | Erectile dysfunction in type 1 diabetes | 5.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — Mitochondrial nucleotide transporter subfamily
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 6 |
| bisphenol A | affects expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Benzo(a)pyrene | decreases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Leflunomide | increases expression | 2 |
| Arsenic | affects methylation, increases abundance, increases expression | 2 |
| Dexamethasone | affects cotreatment, increases expression | 2 |
| 1-Methyl-3-isobutylxanthine | increases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| bisphenol F | increases expression, affects cotreatment | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| diallyl trisulfide | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4JZ | HCT116-SLC25A36-KO-c10 | Cancer cell line | Male |
| CVCL_D4K0 | HCT116-SLC25A36-KO-c8 | Cancer cell line | Male |
| CVCL_TM37 | HAP1 SLC25A36 (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: hyperinsulinemic hypoglycemia, familial, 8
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): erectile dysfunction, hyperinsulinemic hypoglycemia, familial, 8